Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea
| Autor: | Imen Ben Hadj Hmida, Sarra Dimassi, Joelle Bignon-Topalovic, Ali Saad, Anis Hadded, Molka Kammoun, Anu Bashamboo, Mohamed Bibi, Soumaya Mougou-Zerelli, Ken McElreavey |
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| Rok vydání: | 2016 |
| Předmět: |
Adult
0301 basic medicine endocrine system medicine.medical_specialty DNA Mutational Analysis Nonsense mutation 030209 endocrinology & metabolism Genome-wide association study Biology Young Adult 03 medical and health sciences symbols.namesake 0302 clinical medicine medicine Humans Exome Genetic Predisposition to Disease Amenorrhea Gene Exome sequencing Sanger sequencing Genetics Disorder of Sex Development 46 XY Homozygote luteinizing hormone/choriogonadotropin receptor Cytogenetics Obstetrics and Gynecology Receptors LH Phenotype 030104 developmental biology Reproductive Medicine Codon Nonsense symbols Female Genome-Wide Association Study |
| Zdroj: | Fertility and Sterility. 106:225-229.e11 |
| ISSN: | 0015-0282 |
| DOI: | 10.1016/j.fertnstert.2016.03.008 |
| Popis: | Objective To determine the genetic cause of 46,XY primary amenorrhea in three 46,XY girls. Design Whole exome sequencing. Setting University cytogenetics center. Patient(s) Three patients with unexplained 46,XY primary amenorrhea were included in the study. Intervention(s) Potentially pathogenic variants were confirmed by Sanger sequencing, and familial segregation was determined where parents' DNA was available. Main Outcome Measure(s) Exome sequencing was performed in the three patients, and the data were analyzed for potentially pathogenic mutations. The functional consequences of mutations were predicted. Result(s) Three novel homozygous nonsense mutations in the luteinizing hormone receptor ( LHCGR ) gene were identified:c.1573 C→T, p.Gln525Ter, c.1435 C→T p.Arg479Ter, and c.508 C→T, p.Gln170Ter. Conclusion(s) Inactivating mutations of the LHCGR gene may be a more common cause of 46,XY primary amenorrhea than previously considered. |
| Databáze: | OpenAIRE |
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